Rhabdomyomatous mesenchymal hamartoma presenting as a big subcutaneous mass on the neck: a case report

INTRODUCTION: We describe the location, size, histopathologic aspect and immunohistochemical expression of a rhabdomyomatous mesenchymal hamartoma, with the aim of providing useful information for its correct diagnosis. CASE PRESENTATION: A 31-year-old Chinese man first presented 2 years previously with a solitary subcutaneous mass on the left side of his neck and under his mastoid process; the mass’s size was 2×2cm. The mass increased in the size in the past 2 years. Magnetic resonance imaging revealed a dumbbell shaped and well-outlined highly reflective mass, with its upperpart infiltrating the interspace of the atlanto-occipital joint. The mass was surgically removed. On macroscopic examination, the mass was oblong and partly encapsulated, the size of the mass was 4.9×3.5×3cm, and its cut side was grey. On histologic examination, it showed a disordered collection of bundles of mature striated muscle fibres arranged in a haphazard manner and interspersed with adipose tissue, fibrocytes or mesenchymocytes and collagen, and had a myxoid matrix. On immunochemical examination, mature striated muscle was positive for desmin and myoglobin, adipose tissue and nerves were positive for S-100 protein, and fibrocytes or mesenchymocytes and collagen were positive for vimentin and cluster of differentiation 34. A diagnosis of rhabdomyomatous mesenchymal hamartoma was established. CONCLUSIONS: Rhabdomyomatous mesenchymal hamartoma is a rare dermal or subcutaneous lesion, and we describe its immunohistochemical expression for the first time. This case report provides more information on the microscopic appearance and immunohistochemical expression